Two Novel TMPRSS6 Variants in a Compound Heterozygous Child With Iron Refractory Iron Deficiency Anemia

Allison, Jenna L.; Drury, Luke J.; Ford, James B.

doi:10.1097/mph.0000000000001640

Cited by 3 publications

(2 citation statements)

References 11 publications

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“…The youngest age group was reported in the infancy period 17,20,23,25,29,32,34,35,38,40,43. The median (range) of hepcidin and hemoglobin levels were 57.1 (2.5 to 6,292.5 nmol/L) or 157.7 (6.9 to 17,382.6 ng/mL), and 8.2 (4.4 to 13.9) g/dL, respectively 13–43. When the data were collated, there was a correlation between hemoglobin and hepcidin levels ( r =0.24, P =0.034).…”

Section: Discussion and Review Of Literaturementioning

confidence: 98%

“…(Table 1) Most of the reported patients presented in the childhood period, either symptomatic or incidental, with few exceptions. The youngest age group was reported in the infancy period 17,20,23,25,29,32,34,35,38,40,43. The median (range) of hepcidin and hemoglobin levels were 57.1 (2.5 to 6,292.5 nmol/L) or 157.7 (6.9 to 17,382.6 ng/mL), and 8.2 (4.4 to 13.9) g/dL, respectively 13–43.…”

Section: Discussion and Review Of Literaturementioning

confidence: 99%

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Response to Prolonged Duration of Therapeutic Dose Oral Iron Therapy in a Girl With Novel TMPRSS6 Gene Variants: A Case Report and Review Literature

Udomponglukkana¹,

Sasanakul²,

Tangbubpha³

et al. 2022

Journal of Pediatric Hematology/Oncology

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Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive disorder caused by mutations in the TMPRSS6 gene, which impair iron homeostasis. We reported a 4-year-old girl who presented with a 1-year history of iron deficiency anemia. Her hemoglobin level increased from 6.5 g/dL to 12.6 g/dL with a prolonged duration of therapeutic dose oral iron therapy (5 mg/kg/d), and the level remained quite stable during the therapy. Genetic analysis of the TMPRSS6 gene revealed compound heterozygotes of 2 novel pathogenic variants: c.811C> T (NM_153609.3) in exon 7 (NP_705837: p.R271Ter) and c.1254C> G in exon 11 (p.Y418Ter). The results highlight the significance of genetic investigation and long-term iron therapy in iron-refractory iron deficiency anemia patients.

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Section: Discussion and Review Of Literaturementioning

confidence: 98%

Section: Discussion and Review Of Literaturementioning

confidence: 99%

Response to Prolonged Duration of Therapeutic Dose Oral Iron Therapy in a Girl With Novel TMPRSS6 Gene Variants: A Case Report and Review Literature

Udomponglukkana¹,

Sasanakul²,

Tangbubpha³

et al. 2022

Journal of Pediatric Hematology/Oncology

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The role of TMPRSS6 gene polymorphism in iron resistance iron deficiency anaemia (IRIDA): a systematic review

Sharma,

Kumar,

Saha

et al. 2023

Ann Hematol

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Novel TMPRSS6 variants and their impact on iron‐refractory iron deficiency anaemia in pregnancy: A North Indian genotype phenotype study

Sharma,

Kumar,

Rawat

et al. 2024

Br J Haematol

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SummaryIron‐refractory iron deficiency anaemia (IRIDA) is a rare autosomal recessive disorder, distinguished by hypochromic microcytic anaemia, low transferrin levels and inappropriately elevated hepcidin (HEPC) levels. It is caused by mutations in TMPRSS6 gene. Systematic screening of 500 pregnant women with iron deficiency anaemia having moderate to severe microcytosis with no other causes of anaemia were enrolled to rule out oral iron refractoriness. It identified a final cohort of 10 (2.15% prevalence) individuals with IRIDA phenotype. Haematological and biochemical analysis revealed significant differences between iron responders and iron non‐responders, with iron non‐responders showing lower haemoglobin, red blood cell count, serum iron and serum ferritin levels, along with elevated HEPC (9.47 ± 2.75 ng/mL, p = 0.0009) and erythropoietin (4.58 ± 4.07 µ/mL, p = 0.0196) levels. Genetic sequencing of the TMPRSS6 gene in this final cohort identified 10 novel variants, including seven missense and three frame‐shift mutations, with four missense variants showing high functional impact defining the IRIDA phenotype. Structural analysis revealed significant damage caused by two variants (p.L83R and p.S235R). This study provides valuable insights into IRIDA among pregnant women in the Indian subcontinent, unveiling its underlying causes of unresponsiveness, genetic mechanisms and prevalence. Furthermore, research collaboration is essential to validate these findings and develop effective treatments.

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Two Novel TMPRSS6 Variants in a Compound Heterozygous Child With Iron Refractory Iron Deficiency Anemia

Cited by 3 publications

References 11 publications

Response to Prolonged Duration of Therapeutic Dose Oral Iron Therapy in a Girl With Novel TMPRSS6 Gene Variants: A Case Report and Review Literature

Response to Prolonged Duration of Therapeutic Dose Oral Iron Therapy in a Girl With Novel TMPRSS6 Gene Variants: A Case Report and Review Literature

The role of TMPRSS6 gene polymorphism in iron resistance iron deficiency anaemia (IRIDA): a systematic review

Novel TMPRSS6 variants and their impact on iron‐refractory iron deficiency anaemia in pregnancy: A North Indian genotype phenotype study

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